Spinal muscular atrophy (SMA), an autosomal recessive inherited disease, is a leading genetic killer under the age of two years. This disease is caused by mutation in the telomeric copy of the survival motor neuron gene (SMN1). Most carriers of SMA have one chromosome 5 with a normal SMN1 gene and one with a deleted SMN1 gene. Although no large-scale population-based studies has been done in Saudi Arabia, previous estimations have indicated that incidence of SMA is much higher in Saudi population compared with other ethnic groups, partly because of high prevalence of consanguineous marriages. In this pilot study, we used a highly sensitive quantitative-polymerase chain reaction method to detect SMA carriers. Among 187 normal individuals not related to an SMA patient the carrier frequency was 5%, i.e. one carrier in each 20 persons compared to one in 50?80 in other parts of the world. Based on the results of this pilot study a new project is designed to further analyze the carrier status of SMA in Saudi population. This will shed more light on the magnitude of the problem of SMA in the countries with high rate of consanguinity.
SummarySpinal muscular atrophy (SMA) is a common, often fetal, autosomal recessively inherited disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The SMAdetermining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2). It has been established that SMA is caused by mutations in SMN1 whereas homozygous deletion of SMN2 has apparently no pathological consequences. The aim of this study is to develop an easy and inexpensive method for the isolation of high-quality template DNA from blood samples for SMA carrier screening by multiplex polymerase chain reaction. We have developed a protocol that optimizes detection of the SMN1 copy number in the human genome, producing a specific and sensitive assay using DNA extracted from a dried blood spot on IsoCode TM paper.
Summary
Spinal muscular atrophy (SMA) is a common, often fetal, autosomal recessively inherited disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The SMA‐determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2). It has been established that SMA is caused by mutations in SMN1 whereas homozygous deletion of SMN2 has apparently no pathological consequences. The aim of this study is to develop an easy and inexpensive method for the isolation of high‐quality template DNA from blood samples for SMA carrier screening by multiplex polymerase chain reaction. We have developed a protocol that optimizes detection of the SMN1 copy number in the human genome, producing a specific and sensitive assay using DNA extracted from a dried blood spot on IsoCode™ paper.
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